Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity
We describe the case of a 31-year-old male with intellectual disability, obesity and dysmorphic features, in whom array–comparative genomic hybridization identified a de novo 9.55 Mb deletion at 1q31.2q32.1. We discuss the genes encompassed within the deleted region; in particular, the implications of the deleted cancer-predisposing gene, CDC-73, and compare our clinical findings to other cases with similar deletions. The absence of microcephaly and growth retardation appears to differentiate more proximal interstitial 1q deletions from intermediate 1q deletions, and the presence of obesity is a newly reported phenotyp...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype
We described herein a patient with CDLS5, an X-linked form, caused by mutations in the HDAC8 gene inherited form the mosaic mother. Analysis of results from whole exome sequencing identified two variants with possible impact on the phenotype. Of them, hemizygous variant (c.938G>A, p.Arg313Gln) inherited from the mosaic mother, was further proved to lead to disease in the proband. Our intention was to delineate this syndrome but also point out the clinical course of the disease, which only in combination with a facial phenotype allow for verification of exome sequencing result. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature
In this report, we describe the first patient with Ser40Trp variant in IFITM5, who presented with multiple fractures in the prenatal period. She remained fracture free after birth (except for trauma-related fractures during puberty) with normal bone mineral densitometry. Her mother, who did not have a history of fracture, was noted to have somatogonadal mosaicism for this variant and became pregnant with a second child with multiple prenatal fractures, found to have the same variant. To our knowledge, this is the first case of somatogonadal mosaicism in IFITM5. In addition, we have summarized the literature on patients pre...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders
The objective of our study was to use an established cohort of boys to investigate common patterns of malformations in those with hypospadias. We performed a retrospective review of the phenotype of participants in the Deciphering Developmental Disorders Study with neurodevelopmental delay and an ‘Abnormality of the genital system’. This group was divided into two subgroups: those with hypospadias and without hypospadias. Associated phenotypes of the two subgroups were compared and analysed. Of the 166 Deciphering Developmental Disorders participants with hypospadias and neurodevelopmental delay, 47 (28%) had cardiovas...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series
Disorders associated with multiple vertebral segmentation defects may have additional rib anomalies in form of absence or hypoplastic ribs, fanning of ribs, etc. Spondylocostal dysostosis is genetic disorder with abnormal vertebral segmentation and rib anomalies. Diagnosis is often delayed because of non-familiarity with the characteristic features. There are six genes identified for spondylocostal dysostosis, of which SCDO5 is responsible for autosomal dominant form of the disorder. Retrospective study was conducted in Genetic and Metabolic unit of a tertiary hospital in north India over a period of 9 years. Twenty patien...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
De novo Xq21.31–q21.32 duplication in intellectual disability: a new report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in: DEAF1: gene
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Novel mutation in MASP1 gene in a new family with 3MC syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Meier-Gorlin syndrome: an additional case report in an adult woman
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Autosomal recessive cutis laxa: a novel mutation in the: FBLN5: gene in a family
We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be ‘possibly pathogenic’ in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inherita...
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
